InnateDB Protein
|
IDBP-593499.3
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
DNAL1
|
Protein Name
|
dynein, axonemal, light chain 1
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000452037
|
InnateDB Gene
|
IDBG-11598 (DNAL1)
|
Protein Structure
|
|
Function |
|
Subcellular Localization |
|
Disease Associations |
Ciliary dyskinesia, primary, 16 (CILD16) [MIM:614017]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269PubMed:21496787}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
Expressed in tissues carrying motile cilia such as testis. {ECO:0000269PubMed:15845866}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
2
[view]
|
Protein-Protein |
1
[view]
|
Protein-DNA |
1
[view]
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
2 [view]
|
|
|
PDB ID |
|
InterPro |
|
PFAM |
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q4LDG9
|
PhosphoSite |
PhosphoSite-Q4LDG9
|
TrEMBL |
H0YM28
|
UniProt Splice Variant |
|
Entrez Gene |
83544
|
UniGene |
Hs.271270
|
RefSeq |
NP_113615
|
HUGO |
HGNC:23247
|
OMIM |
610062
|
CCDS |
CCDS45134
|
HPRD |
16616
|
IMGT |
|
EMBL |
AC005225
AC006146
AF542071
AK315392
AL833654
BC005343
|
GenPept |
AAH05343
AAQ11377
BAG37785
CAI46147
|
|
|